Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.S59*

QDPR

229 papers

RefSeq Summary

This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aroma...

Pfam Domains

adh_shortaa 11–198UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

quinoid dihydropteridine reductase

HGNC Alias Symbols

DHPR; PKU2; SDR33C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000320.3
p.S59*
c.176C>A
Surrounding Variants
1 paper
NM_000320.3
p.S59L
c.176C>T
1 paper
NM_000320.3
p.S59insFs
c.175dupT
1 paper
NM_000320.3
p.D58delFs
c.174delG
1 paper
NM_000320.3
p.S59fs
c.175_176fs
1 paper
NM_000320.3
p.F60S
c.179T>C
1 paper
NM_000320.3
p.T57del1
c.169_171delTGT
1 paper
NM_000320.3
p.Q63ins0
c.187_189dupCAG
1 paper
NM_000320.3
p.A64T
c.190G>A
1 paper
NM_000320.3
p.V54G
c.161T>G
1 paper
NM_000320.3
p.I53S
c.158T>G
7 papers
NM_000320.3
p.Q66R
c.197A>G
1 paper
NM_000320.3
p.Q66_V67Splc
c.198+1G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."